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Circ Arrhythm Electrophysiol. 2016 Jun;9(6). pii: e004081. doi: 10.1161/CIRCEP.116.004081.

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.

Author information

1
From the Departments of Pharmacology (K.B.), Medicine (J.A.M., A.N.K., C.M.C., M.B.S., D.M.R.), Biomedical Informatics (D.M.R.), Vanderbilt University, Nashville, TN; Departments of Pediatrics (W.K.C.), Medicine (W.K.C.), Columbia University Medical Center, New York, NY; and GeneDx, Gaithersburg, MD (D.M., D.K., E.V.).
2
From the Departments of Pharmacology (K.B.), Medicine (J.A.M., A.N.K., C.M.C., M.B.S., D.M.R.), Biomedical Informatics (D.M.R.), Vanderbilt University, Nashville, TN; Departments of Pediatrics (W.K.C.), Medicine (W.K.C.), Columbia University Medical Center, New York, NY; and GeneDx, Gaithersburg, MD (D.M., D.K., E.V.). dan.roden@vanderbilt.edu.

KEYWORDS:

Jervell and Lange-Nielsen syndrome; KCNQ1; genetic testing; long QT syndrome; next-generation sequencing

PMID:
27286732
PMCID:
PMC4905601
DOI:
10.1161/CIRCEP.116.004081
[Indexed for MEDLINE]
Free PMC Article

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